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skos:definition |
CSP: X linked trait causing hemolytic anemia, mental retardation and behavioral and neurologic abnormalities.,JABL: Phosphoglycerate kinase (E.C. 2.7.2.3) deficiency with chronic nonspherocytic hemolytic anemia and variable neurologic and myopathic features in males or occasional hemolysis without any neurological complications. Variability of expression is believed to be due to biochemical properties of PKG variants.
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